Incidental Mutation 'R3712:Pi4k2a'
ID 259705
Institutional Source Beutler Lab
Gene Symbol Pi4k2a
Ensembl Gene ENSMUSG00000025178
Gene Name phosphatidylinositol 4-kinase type 2 alpha
Synonyms
MMRRC Submission 040705-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.899) question?
Stock # R3712 (G1)
Quality Score 138
Status Validated
Chromosome 19
Chromosomal Location 42078909-42110526 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 42079131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 64 (R64Q)
Ref Sequence ENSEMBL: ENSMUSP00000069284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051772] [ENSMUST00000066778]
AlphaFold Q2TBE6
Predicted Effect probably benign
Transcript: ENSMUST00000051772
SMART Domains Protein: ENSMUSP00000062887
Gene: ENSMUSG00000049670

DomainStartEndE-ValueType
MORN 14 35 1.64e-5 SMART
MORN 37 58 4.15e-2 SMART
MORN 60 81 1.86e-4 SMART
MORN 83 104 1.84e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000066778
AA Change: R64Q

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000069284
Gene: ENSMUSG00000025178
AA Change: R64Q

DomainStartEndE-ValueType
low complexity region 31 53 N/A INTRINSIC
low complexity region 68 98 N/A INTRINSIC
Pfam:PI3_PI4_kinase 133 431 1.7e-67 PFAM
Meta Mutation Damage Score 0.2657 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (59/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphatidylinositolpolyphosphates (PtdInsPs) are centrally involved in many biologic processes, ranging from cell growth and organization of the actin cytoskeleton to endo- and exocytosis. PI4KII phosphorylates PtdIns at the D-4 position, an essential step in the biosynthesis of PtdInsPs (Barylko et al., 2001 [PubMed 11244087]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trap allele develop a progressive neurologic disease typified by urinary incontinence, tremor, limb weakness, weight loss, cerebellar gliosis, Purkinje cell loss, degeneration of spinal cord axons and premature death. Mutant males are sterile while females are subfertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310079G19Rik C A 16: 88,424,411 (GRCm39) V27F unknown Het
Akr1c20 T C 13: 4,560,222 (GRCm39) E152G probably damaging Het
Alx4 G A 2: 93,473,134 (GRCm39) G44D possibly damaging Het
Arhgap31 T A 16: 38,422,895 (GRCm39) E1057V possibly damaging Het
Arhgef26 A T 3: 62,331,050 (GRCm39) D588V probably damaging Het
Bag2 T A 1: 33,785,997 (GRCm39) E108D probably benign Het
Ccdc162 C T 10: 41,463,375 (GRCm39) V183I probably benign Het
Ccdc83 A G 7: 89,885,563 (GRCm39) probably benign Het
Ccnyl1 G A 1: 64,753,827 (GRCm39) E137K probably damaging Het
Celsr2 T C 3: 108,308,155 (GRCm39) T1849A probably benign Het
Cep192 C A 18: 67,953,400 (GRCm39) D472E probably benign Het
Cep57l1 A G 10: 41,619,110 (GRCm39) Y86H probably damaging Het
Cep95 G T 11: 106,702,112 (GRCm39) E370* probably null Het
Cldn10 A G 14: 119,092,522 (GRCm39) T41A probably damaging Het
Clptm1l T A 13: 73,764,157 (GRCm39) Y426N probably benign Het
Dipk1b T C 2: 26,522,650 (GRCm39) L33S possibly damaging Het
Eps15 T C 4: 109,166,374 (GRCm39) V89A probably damaging Het
Fam53b A G 7: 132,361,654 (GRCm39) S125P probably damaging Het
Fbxo44 A T 4: 148,240,461 (GRCm39) W256R probably benign Het
Gnl2 T C 4: 124,940,067 (GRCm39) V313A probably damaging Het
Hyal4 A G 6: 24,756,513 (GRCm39) R244G probably damaging Het
Irf6 G T 1: 192,844,931 (GRCm39) W134L probably benign Het
Kcnu1 A G 8: 26,371,448 (GRCm39) T286A probably damaging Het
Lpcat2 T C 8: 93,644,798 (GRCm39) V529A possibly damaging Het
Lrfn2 A G 17: 49,378,188 (GRCm39) E423G possibly damaging Het
Lrp8 G T 4: 107,705,499 (GRCm39) R209L probably benign Het
Mgll T C 6: 88,741,570 (GRCm39) probably benign Het
Mix23 T C 16: 35,901,775 (GRCm39) probably null Het
Mta3 A G 17: 84,070,417 (GRCm39) I193V probably damaging Het
Nedd4l G A 18: 65,342,790 (GRCm39) V909I possibly damaging Het
Or10al5 T A 17: 38,063,271 (GRCm39) C175* probably null Het
Or3a1d A T 11: 74,238,023 (GRCm39) I129N probably damaging Het
Or5p66 A T 7: 107,885,663 (GRCm39) Y223* probably null Het
Or6c206 A T 10: 129,097,093 (GRCm39) K88* probably null Het
Orc1 T C 4: 108,461,218 (GRCm39) V526A probably damaging Het
Pard3b T C 1: 62,383,137 (GRCm39) S744P probably damaging Het
Pcnx3 G A 19: 5,733,367 (GRCm39) Q155* probably null Het
Pcnx3 C G 19: 5,733,368 (GRCm39) L1F probably null Het
Pdcd11 T A 19: 47,115,684 (GRCm39) probably benign Het
Pigt A G 2: 164,343,565 (GRCm39) D347G probably benign Het
Rbm27 T C 18: 42,425,177 (GRCm39) probably benign Het
Rpl7a-ps10 A G 9: 97,061,926 (GRCm39) E232G probably damaging Het
Rprd2 A G 3: 95,671,872 (GRCm39) L1177P probably damaging Het
Rrn3 T A 16: 13,601,959 (GRCm39) L71* probably null Het
Sbspon A G 1: 15,962,669 (GRCm39) C70R probably damaging Het
Smtn A T 11: 3,482,865 (GRCm39) probably null Het
Son A G 16: 91,453,614 (GRCm39) D787G probably damaging Het
Sphkap C T 1: 83,254,833 (GRCm39) S972N probably benign Het
Spopl C T 2: 23,427,392 (GRCm39) R221Q probably damaging Het
Srp14 A C 2: 118,309,440 (GRCm39) L58V probably null Het
Sun2 A G 15: 79,612,114 (GRCm39) S522P possibly damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Trdn T C 10: 33,033,162 (GRCm39) I129T probably benign Het
Trpv3 A G 11: 73,169,780 (GRCm39) K117R probably benign Het
Ubqlnl A T 7: 103,798,345 (GRCm39) I384N probably benign Het
Ush2a G A 1: 188,542,489 (GRCm39) G3352S probably benign Het
Vmn1r59 A T 7: 5,457,637 (GRCm39) I41K probably damaging Het
Vmn2r125 T A 4: 156,702,419 (GRCm39) Y68* probably null Het
Zpld1 A T 16: 55,046,799 (GRCm39) L390* probably null Het
Other mutations in Pi4k2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01710:Pi4k2a APN 19 42,093,418 (GRCm39) missense probably damaging 1.00
IGL02959:Pi4k2a APN 19 42,101,510 (GRCm39) missense probably benign 0.42
R1570:Pi4k2a UTSW 19 42,089,083 (GRCm39) missense probably benign 0.33
R1992:Pi4k2a UTSW 19 42,104,377 (GRCm39) missense probably damaging 1.00
R2113:Pi4k2a UTSW 19 42,103,510 (GRCm39) missense possibly damaging 0.78
R2358:Pi4k2a UTSW 19 42,079,131 (GRCm39) missense probably damaging 0.99
R2410:Pi4k2a UTSW 19 42,093,316 (GRCm39) missense possibly damaging 0.55
R3547:Pi4k2a UTSW 19 42,078,987 (GRCm39) missense probably benign 0.10
R3708:Pi4k2a UTSW 19 42,079,370 (GRCm39) nonsense probably null
R3954:Pi4k2a UTSW 19 42,104,338 (GRCm39) missense probably damaging 0.98
R4654:Pi4k2a UTSW 19 42,101,544 (GRCm39) critical splice donor site probably null
R5077:Pi4k2a UTSW 19 42,108,275 (GRCm39) splice site probably null
R5386:Pi4k2a UTSW 19 42,078,954 (GRCm39) missense probably damaging 0.99
R5846:Pi4k2a UTSW 19 42,103,477 (GRCm39) missense probably benign 0.01
R5867:Pi4k2a UTSW 19 42,093,924 (GRCm39) critical splice donor site probably null
R5878:Pi4k2a UTSW 19 42,089,080 (GRCm39) missense probably benign 0.02
R6502:Pi4k2a UTSW 19 42,079,371 (GRCm39) missense probably benign 0.04
R7042:Pi4k2a UTSW 19 42,093,337 (GRCm39) missense probably benign 0.18
R7269:Pi4k2a UTSW 19 42,079,125 (GRCm39) missense probably damaging 1.00
R7819:Pi4k2a UTSW 19 42,079,013 (GRCm39) missense probably benign
R8249:Pi4k2a UTSW 19 42,103,501 (GRCm39) missense probably benign 0.00
R8560:Pi4k2a UTSW 19 42,089,151 (GRCm39) nonsense probably null
R9038:Pi4k2a UTSW 19 42,089,235 (GRCm39) missense probably damaging 1.00
Z1177:Pi4k2a UTSW 19 42,093,364 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TCGCCAAGTAAACAGGACAG -3'
(R):5'- ATAGATGCTGCACTCGATGG -3'

Sequencing Primer
(F):5'- AGACGAGCCCGCTAGTGTC -3'
(R):5'- TGCACTCGATGGCAACCTC -3'
Posted On 2015-01-23